Audiology and Neuro-Otology最新文献

Introduction: The aims of the present study were to evaluate postural balance performance of the subjects on the time-restricted feeding (TRF) and reveal the effect of TRF on the vestibular system by comparing the results to those of traditional daily dietary (DD) condition.

Methods: Sixteen adults (3 males, 13 females; mean age: 25.4 ± 4 years) who had experienced at least 1 month of TRF were included in the study. The Sensory Organization Test (SOT) and Head-Shake SOT (HS-SOT) - which evaluate proprioceptive, visual, and vestibular systems - were performed on TRF and DD conditions via the Computerized Dynamic Posturography system.

Results: Significant differences were obtained between TRF and DD situations in SOT-5 (p = 0.008), SOT-6 (p = 0.01), and HS-SOT5 (p = 0.007) conditions in which the vestibular system dominated.

Conclusion: We revealed that TRF has an effect on postural balance in the absence of proprioceptive and visual systems. This feeding model is a negative stressor that has a substantial effect on the vestibular system, but this impact is minimal once the proprioceptive and visual systems are intact. To the best of our knowledge, it is the first study to evaluate postural balance utilizing vestibular parameters in TRF.

Introduction: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal recessive nonsyndromic hearing loss (NSHL) worldwide. However, the mutation profile of GJB2 in NSHL is under-investigated in Morocco, especially among simplex cases. This study aimed to identify the spectrum and frequency of GJB2 mutations in the Moroccan population among simplex and multiplex families with NSHL.

Methods: Moroccan families with NSHL were selected according to well-defined criteria. Selected families were screened for GJB2 gene variants using direct sequencing of the entire coding region of GJB2.

Results: A total of 145 affected individuals from 115 families with NSHL were included in this study (49 simplex, 66 multiplex). Mutations in the GJB2 gene were noted in 28.69% of the families (33/115), of which 75.75% were multiplex families and 24.24% were simplex. In total, seven different mutations were detected: c.35delG(p.G12fs), c.551G>A(p.R184Q), c.139G>T(p.E47X), c.109G>A(p.V37I), c.167delT(p.L56fs), c.617A>G(p.N206S), c.94C>T(p.R32C). The last three mutations have not previously been reported in Morocco. The most common GJB2 mutation was c.35delG (21.73%), followed by p.V37I (2.60%) and p.E47X (1.73%).

Conclusions: Our study confirms a high prevalence of GJB2 variants in the Moroccan population, particularly the c.35delG mutation. Additionally, we have identified previously unreported or rarely reported mutations, revealing a greater diversity of GJB2 mutations. These findings emphasize the importance of comprehensive screening beyond the 35delG mutation for patients with NSHL, regardless of their family history. Integrating this approach into clinical care will enhance diagnosis and management of hearing loss in the Moroccan population.

Introduction: This work aimed to study the management of vestibular schwannoma (VS) patients with normal hearing (NH).

Methods: A retrospective study was undertaken in a Quaternary referral center for skull base pathologies. Among 4,000 VS patients 162 met our strict audiological criteria for NH. These patients were divided into 2 management groups, wait and scan (W&S) (45/162, 25%) and operated patients (123/162, 75%), and 6 patients were included in both groups.

Results: Our management strategy achieved the goals for treatment of VS. First goal, all tumors were completely removed except for 2 intentional residuals. Second goal, facial nerve (FN) function preservation (House Brackmann I, II, and III) was 95.9%. Third goal, possible hearing preservation (HP) attempts occurred in (50/122) (40.9%) with an HP rate in 44% of the patients. Additionally, there were only 2 cases of postoperative complications with no CSF leakage. The prospect of HP in NH patients did not differ with respect to tumor size. However, patients with normal preoperative ABR seemed to have better chances of HP and good FN function and vice versa. HP rate was superior for the MCFA as opposed to the RS + RLA. W&S group demonstrated hearing stability in 88.9% of the patients and FN function stability of HB I in 100% of the patients.

Conclusions: Surgical resection is a reasonable and definitive management option for VS with NH. Nevertheless, choosing to manage cases with observation remains an appropriate management option for NH patients. ABR might be considered as an adjuvant tool indicating better prognosis for HP.

Introduction: Usher syndrome (USH) is an autosomal recessive disorder that predominantly affects hearing, vision, and, in some cases, vestibular function. USH, according to the onset age, severity, and progression of symptoms, is categorized into four main types. In addition, there are a significant number of reports that patients' manifestations deviate from canonical phenotypic criteria of main types of USH, which are named atypical USH. CDH23 is the second most common USH gene in which its defects result in USH1D, non-syndromic autosomal recessive deafness-12 (DFNB12), and in a few cases, atypical USH1D. While some studies have suggested that missense and truncating damaging variants in the CDH23 gene cause DFNB12 and USH1D, respectively, no genotype-phenotype correlation for atypical USH1D has been established.

Methods: Using whole-exome sequencing, we studied an Iranian family with two affected siblings who manifested congenital bilateral hearing loss, late-onset nyctalopia, retinitis pigmentosa, and normal vestibular function, indicating that their clinical symptoms are consistent with USH2.

Results: Whole-exome data analysis revealed a novel bi-allelic nonsense variant (c.6562G>T; p.Glu2188Ter) in the CDH23 gene, which was confirmed by Sanger sequencing. Surprisingly, CDH23 is a member of the USH1 genes; therefore, our patients suffered from atypical USH1D. Also, by conducting a literature review, we provided a clinical and mutational profile of all reported patients with atypical manifestations or those who refuted the claimed genotype-phenotype correlation.

Conclusion: By reporting a novel damaging variant, we expand the mutational spectrum of the CDH23 gene that leads to atypical USH1D. Also, reviewing the literature shows that, contrary to previous claims, different genotypes occur in the CDH23 gene allelic disorders, and there is no clear-cut genotype-phenotype correlation.

Introduction: Current clinical practice considers the vestibulo-ocular reflex (VOR) gain as registered by the video head impulse test (vHIT) as the primary measure for semicircular canal function, while the role of the re-fixation saccades (RSs) is still under evaluation. The goal of the study was to appraise the added benefit of RS towards the improvement of vHIT diagnostic accuracy in cases of suspected left horizontal semicircular canal dysfunction.

Methods: The vHIT recordings of 40 patients with left-sided horizontal VOR gains <0.8 were retrospectively evaluated for the presence of RS. The study groups included 20 patients with a final diagnosis of left horizontal semicircular canal dysfunction and 20 patients for whom vestibular dysfunction was ruled out.

Results: Gain values >0.72 were found in all patients with no vestibular disease and in 4 (20%) patients having vestibulopathy. Significantly higher average left-sided RS velocity and frequency were found among the vestibular patients. VOR gain <0.72 was found to be highly specific for the diagnosis of vestibular dysfunction. However, for gain values in the range of 0.72-0.79, the presence of RS with frequency >80% largely improved vHIT diagnostic accuracy.

Conclusions: Although VOR gain <0.8 is considered to reflect dysfunction, a significant false-positive rate for left-sided horizontal vHIT was found for gains in the range of 0.72-0.79. The presence of RS with frequency >80% could improve vHIT diagnostic ability in these patients.

Background: Mutations in TMPRSS3 are an important cause of autosomal recessive non-syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is characterized by phenotypic heterogeneity, ranging from mild to profound hearing loss, and is generally progressive. Clinical presentation and natural history of TMPRSS3 mutations vary significantly based on the location and type of mutation in the gene. Understanding these genotype-phenotype relationships and associated natural disease histories is necessary for the successful development and application of gene-based therapies and precision medicine approaches to DFNB8/10. The heterogeneous presentation of TMPRSS3-associated disease makes it difficult to identify patients clinically. As the body of literature on TMPRSS3-associated deafness grows, there is need for better categorization of the hearing phenotypes associated with specific mutations in the gene.

Summary: In this review, we summarize TMPRSS3 genotype-phenotype relationships including a thorough description of the natural history of patients with TMPRSS3-associated hearing loss to lay the groundwork for the future of TMPRSS3 treatment using molecular therapy.

Key messages: TMPRSS3 mutation is a significant cause of genetic hearing loss. All patients with TMPRSS3 mutation display severe-to-profound prelingual (DFNB10) or a postlingual (DFNB8) progressive sensorineural hearing loss. Importantly, TMPRSS3 mutations have not been associated with middle ear or vestibular deficits. The c.916G>A (p.Ala306Thr) missense mutation is the most frequently reported mutation across populations and should be further explored as a target for molecular therapy.

Introduction: Tinnitus is one of the most common complaints, distressing about 15-24% of the adult population. Because of its pathophysiology heterogeneity, no curable treatment has been attained yet. Even though a neuromodulation management technique based on the tinnitus network model is currently being developed, it has not yet worked because the most involved brain areas still remain unpredictable from the patient's individual clinical and functional profile. A remarkable correlation between tinnitus network activity and the subjective measures of tinnitus like perceived loudness and annoyance and functional handicap is well established. Therefore, this study aimed to develop software for predicting the involved brain areas in the tinnitus network based on the subjective characteristics and clinical profile of patients using a supervised machine-learning method.

Methods: The involved brain areas of 30 tinnitus patients ranging from 6 to 80 months in duration were recognized by using QEEG and sLORETA software. There was a correlation between subjective information and those areas of activities in all rhythms by which we wrote our software.

Results: For verification and validation of the software, we compared and analyzed the results with SPSS data and the receiver operating characteristic (ROC) curves.

Conclusions: The findings of this study confirmed the effectiveness of the software in predicting the brain activity in tinnitus subjects; however, some other important parameters can be added to the model to strengthen its reliability and feasibility in clinical use.

Introduction: This study aimed to evaluate the incidence of balance disorders and the efficacy of dexamethasone in protecting patients undergoing cisplatin-based cancer treatment against vestibulototoxicity.

Methods: This study was a randomized controlled phase IIIB clinical trial. The subjects participating in the clinical trial were patients with a neoplastic disease whose treatment protocol included cisplatin. The average dose of cisplatin was 444.87 mg (SD 235.2 mg). Treatment consisted of intratympanically administering dexamethasone via a passive diffusion device called Microwick (8 mg/24 h dose) from the start of treatment with cisplatin to 3 weeks after the last cycle. Patients were administered the medication to one ear, and the contralateral ear was used as the control. The treated ears were randomly chosen using a computer system (randomization). Vestibular system was evaluated by video head impulse test before each cisplatin cycle.

Results: Thirty-four patients were recruited over a 2-year period at a reference tertiary hospital, of whom 11 were excluded. Forty-six ears were analyzed (23 treated and 23 control ears). Vestibular analysis presented no changes in the mean increase in the vestibulo-ocular response in all patients evaluated, both in treated and control ears. Both 8.69% infection complications during treatment and 34.8% permanent perforation at 6 months were detected after device removal.

Conclusion: Ototoxicity related to cisplatin-based treatment does not affect the vestibular system. Long-term high-dose intratympanic dexamethasone treatment is safe for the vestibular system.

Background: Speech perception in noise is especially challenging for cochlear implant (CI) recipients; thus, speech in noise tests are used to clinically evaluate functional hearing with CIs. The coordinate response measure (CRM) corpus can be utilized in an adaptive speech perception test with competing speakers as the masker. Determining the critical difference for CRM thresholds can enable it to be used to evaluate changes in CI outcomes for clinical and research purposes. If a change in CRM exceeds the critical difference, then this would indicate significant improvement or decrement in speech perception. Additionally, this information provides figures for power calculations that could be used for planning studies and clinical trials [Bland JM: An Introduction to Medical Statistics, 2000].

Objectives: This study determined the test-retest reliability of the CRM for adults with normal hearing (NH) and adults with CIs. The replicability, variability, and repeatability of the CRM were evaluated for the two groups separately.

Method: Thirty-three NH adults and thirteen adult CI recipients were recruited and tested with the CRM twice, 1 month apart. The CI group was tested with two talkers only, while the NH group was tested with seven talkers as well as two talkers.

Results: CRM had better replicability, repeatability and lower variability for the CI adults compared to NH adults. The critical difference (at p < 0.05) in the two-talker CRM speech reception thresholds (SRTs) among CI users was >5.2 dB, and it was >6.2 dB for the NH if an individual were to be tested under two different conditions. The critical difference (at p < 0.05) in the seven-talker CRM SRT was >6.49. The Mann-Whitney U test showed that CI recipients' CRM scores' variance (Mdn = -0.94) was significantly less than the NH group's (Mdn = 2.2) (U = 54, p < 0.0001). Although the NH had significantly better SRTs in the two-talker condition than in the seven-talker condition (t = -20.29, df = 65, p < 0.0001), the Wilcoxon signed ranks test showed no significant difference between the CRM scores' variance in the two conditions (Z = -1, N = 33, p = 0.08).

Conclusions: NH adults had significantly lower CRM SRTs than the CI recipients; t (31.16) = -23.91, p < 0.001. CRM had better replicability, stability and lower variability for the CI adults compared to NH adults.

Introduction: In individuals with single-sided deafness (SSD), who are characterised by profound hearing loss in one ear and normal hearing in the contralateral ear, binaural input is no longer present. A cochlear implant (CI) can restore functional hearing in the profoundly deaf ear, with previous literature demonstrating improvements in speech-in-noise intelligibility with the CI. However, we currently have limited understanding of the neural processes involved (e.g., how the brain integrates the electrical signal produced by the CI with the acoustic signal produced by the normal hearing ear) and how modulation of these processes with a CI contributes to improved speech-in-noise intelligibility. Using a semantic oddball paradigm presented in the presence of background noise, this study aims to investigate how the provision of CI impacts speech-in-noise perception of SSD-CI users.

Method: Task performance (reaction time, reaction time variability, target accuracy, subjective listening effort) and high density electroencephalography from twelve SSD-CI participants were recorded, while they completed a semantic acoustic oddball task. Reaction time was defined as the time taken for a participant to press the response button after stimulus onset. All participants completed the oddball task in three different free-field conditions with the speech and noise coming from different speakers. The three tasks were: (1) CI-On in background noise, (2) CI-Off in background noise, and (3) CI-On without background noise (Control). Task performance and electroencephalography data (N2N4 and P3b) were recorded for each condition. Speech in noise and sound localisation ability were also measured.

Results: Reaction time was significantly different between all tasks with CI-On (M [SE] = 809 [39.9] ms) having faster RTs than CI-Off (M [SE] = 845 [39.9] ms) and Control (M [SE] = 785 [39.9] ms) being the fastest condition. The Control condition exhibited significantly shorter N2N4 and P3b area latency compared to the other two conditions. However, despite these differences noticed in RTs and area latency, we observed similar results between all three conditions for N2N4 and P3b difference area.

Conclusion: The inconsistency between the behavioural and neural results suggests that EEG may not be a reliable measure of cognitive effort. This rationale is further supported by different explanations used in past studies to explain N2N4 and P3b effects. Future studies should look to alternative measures of auditory processing (e.g., pupillometry) to gain a deeper understanding of the underlying auditory processes that facilitate speech-in-noise intelligibility.